2359[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 2246051	NM_016441.3(CRIM1):c.7T>G (p.Leu3Val)	CRIM1 (L3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059689	NM_016441.3(CRIM1):c.26G>T (p.Gly9Val)	CRIM1 (G9V)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GBenign
Select item 2622909	NM_016441.3(CRIM1):c.37T>C (p.Cys13Arg)	CRIM1 (C13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468604	NM_016441.3(CRIM1):c.65G>T (p.Gly22Val)	CRIM1 (G22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033563	NM_016441.3(CRIM1):c.76C>A (p.Leu26Met)	CRIM1 (L26M)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GBenign
Select item 736007	NM_016441.3(CRIM1):c.141G>A (p.Glu47=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303398	NM_016441.3(CRIM1):c.290A>G (p.Asn97Ser)	CRIM1 (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269510	NM_016441.3(CRIM1):c.304A>C (p.Thr102Pro)	CRIM1 (T102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708457	NM_016441.3(CRIM1):c.324T>C (p.Val108=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3077443	NM_016441.3(CRIM1):c.328G>C (p.Glu110Gln)	CRIM1 (E110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777991	NM_016441.3(CRIM1):c.331+5G>A	CRIM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3077444	NM_016441.3(CRIM1):c.406A>G (p.Ile136Val)	CRIM1 (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362208	NM_016441.3(CRIM1):c.437G>A (p.Arg146Gln)	CRIM1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045518	NM_016441.3(CRIM1):c.506-8C>T	CRIM1	Single nucleotide variant (intron variant)	CRIM1-related disorder	GLikely benign
Select item 2553822	NM_016441.3(CRIM1):c.532C>T (p.Arg178Cys)	CRIM1 (R178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269511	NM_016441.3(CRIM1):c.598C>G (p.Pro200Ala)	CRIM1 (P200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616847	NM_016441.3(CRIM1):c.614C>G (p.Pro205Arg)	CRIM1 (P205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721608	NM_016441.3(CRIM1):c.678C>T (p.Asn226=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789559	NM_016441.3(CRIM1):c.699A>G (p.Lys233=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2287319	NM_016441.3(CRIM1):c.713C>T (p.Pro238Leu)	CRIM1 (P238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620259	NM_016441.3(CRIM1):c.743A>C (p.Lys248Thr)	CRIM1 (K248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345833	NM_016441.3(CRIM1):c.749-9C>T	CRIM1	Single nucleotide variant (intron variant)	CRIM1-related disorder	GLikely benign
Select item 3269512	NM_016441.3(CRIM1):c.766A>G (p.Arg256Gly)	CRIM1 (R256G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472318	NM_016441.3(CRIM1):c.772G>A (p.Val258Met)	CRIM1 (V258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477924	NM_016441.3(CRIM1):c.805C>G (p.Pro269Ala)	CRIM1 (P269A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734879	NM_016441.3(CRIM1):c.807C>G (p.Pro269=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2476000	NM_016441.3(CRIM1):c.861G>T (p.Leu287Phe)	CRIM1 (L287F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395112	NM_016441.3(CRIM1):c.874G>A (p.Glu292Lys)	CRIM1 (E292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686603	NM_016441.3(CRIM1):c.881T>C (p.Leu294Pro)	CRIM1 (L294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291276	NM_016441.3(CRIM1):c.899T>C (p.Phe300Ser)	CRIM1 (F300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077447	NM_016441.3(CRIM1):c.904G>A (p.Val302Met)	CRIM1 (V302M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487716	NM_016441.3(CRIM1):c.929G>A (p.Arg310His)	CRIM1 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1180437	NC_000002.12:g.36472472_36866823dup	LOC122757918, LOC122757919 +9 more	Duplication	See cases	Gnot provided
Select item 3077428	NM_016441.3(CRIM1):c.1043T>C (p.Met348Thr)	CRIM1 (M348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248481	NM_016441.3(CRIM1):c.1055A>G (p.Asp352Gly)	CRIM1 (D352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077429	NM_016441.3(CRIM1):c.1064G>A (p.Arg355Gln)	CRIM1 (R355Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269508	NM_016441.3(CRIM1):c.1073G>A (p.Arg358Gln)	CRIM1 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790641	NM_016441.3(CRIM1):c.1077C>T (p.Cys359=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2221916	NM_016441.3(CRIM1):c.1101C>G (p.Phe367Leu)	CRIM1 (F367L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712501	NM_016441.3(CRIM1):c.1206C>G (p.Gly402=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035170	NM_016441.3(CRIM1):c.1235A>C (p.His412Pro)	CRIM1 (H412P)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GLikely benign
Select item 2557404	NM_016441.3(CRIM1):c.1237G>C (p.Gly413Arg)	CRIM1 (G413R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224472	NM_016441.3(CRIM1):c.1243C>G (p.Arg415Gly)	CRIM1 (R415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077430	NM_016441.3(CRIM1):c.1244G>A (p.Arg415Gln)	CRIM1 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333292	NM_016441.3(CRIM1):c.1279G>A (p.Val427Ile)	CRIM1 (V427I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 779865	NM_016441.3(CRIM1):c.1305G>A (p.Ala435=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044876	NM_016441.3(CRIM1):c.1308C>G (p.Thr436=)	CRIM1	Single nucleotide variant (synonymous variant)	CRIM1-related disorder	GLikely benign
Select item 774812	NM_016441.3(CRIM1):c.1323C>G (p.Thr441=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3067457	NM_016441.3(CRIM1):c.1336G>T (p.Val446Leu)	CRIM1 (V446L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280710	NM_016441.3(CRIM1):c.1399C>T (p.Pro467Ser)	CRIM1 (P467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077432	NM_016441.3(CRIM1):c.1472A>G (p.Asn491Ser)	CRIM1 (N491S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077433	NM_016441.3(CRIM1):c.1480C>T (p.Arg494Trp)	CRIM1 (R494W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775710	NM_016441.3(CRIM1):c.1501+10C>G	CRIM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3038948	NM_016441.3(CRIM1):c.1504G>A (p.Glu502Lys)	CRIM1 (E502K)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GBenign
Select item 2391157	NM_016441.3(CRIM1):c.1522C>T (p.Arg508Cys)	CRIM1 (R508C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077434	NM_016441.3(CRIM1):c.1530A>C (p.Gln510His)	CRIM1 (Q510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269507	NM_016441.3(CRIM1):c.1582G>A (p.Glu528Lys)	CRIM1 (E528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044656	NM_016441.3(CRIM1):c.1587C>G (p.Ile529Met)	CRIM1 (I529M)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GLikely benign
Select item 2369402	NM_016441.3(CRIM1):c.1598G>A (p.Arg533His)	CRIM1 (R533H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559067	NM_016441.3(CRIM1):c.1648C>T (p.Leu550Phe)	CRIM1 (L550F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3350482	NM_016441.3(CRIM1):c.1680C>T (p.Asp560=)	CRIM1	Single nucleotide variant (synonymous variant)	CRIM1-related disorder	GLikely benign
Select item 2650823	NM_016441.3(CRIM1):c.1791T>C (p.Ala597=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077435	NM_016441.3(CRIM1):c.1810C>A (p.Leu604Met)	CRIM1 (L604M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473640	NM_016441.3(CRIM1):c.1820C>T (p.Thr607Ile)	CRIM1 (T607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077436	NM_016441.3(CRIM1):c.1831G>A (p.Val611Met)	CRIM1 (V611M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 723220	NM_016441.3(CRIM1):c.1869C>T (p.His623=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2650824	NM_016441.3(CRIM1):c.1997_1998del (p.Phe666fs)	CRIM1 (F666fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3269509	NM_016441.3(CRIM1):c.2002G>A (p.Val668Met)	CRIM1 (V668M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077437	NM_016441.3(CRIM1):c.2041G>A (p.Ala681Thr)	CRIM1 (A681T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269506	NM_016441.3(CRIM1):c.2075C>T (p.Thr692Met)	CRIM1 (T692M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603412	NM_016441.3(CRIM1):c.2084T>C (p.Ile695Thr)	CRIM1 (I695T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510113	NM_016441.3(CRIM1):c.2116G>A (p.Gly706Arg)	CRIM1 (G706R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238844	NM_016441.3(CRIM1):c.2150C>T (p.Pro717Leu)	CRIM1 (P717L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494605	NM_016441.3(CRIM1):c.2173C>T (p.Arg725Cys)	CRIM1 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605832	NM_016441.3(CRIM1):c.2200T>A (p.Cys734Ser)	CRIM1 (C734S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050614	NM_016441.3(CRIM1):c.2341G>A (p.Val781Ile)	CRIM1 (V781I)	Single nucleotide variant (missense variant)	CRIM1-related disorder	GLikely benign
Select item 2326689	NM_016441.3(CRIM1):c.2426T>G (p.Ile809Arg)	CRIM1 (I809R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391140	NM_016441.3(CRIM1):c.2482G>A (p.Asp828Asn)	CRIM1 (D828N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605655	NM_016441.3(CRIM1):c.2497G>A (p.Asp833Asn)	CRIM1 (D833N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650825	NM_016441.3(CRIM1):c.2541C>A (p.Thr847=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525198	NM_016441.3(CRIM1):c.2566C>A (p.Pro856Thr)	CRIM1 (P856T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710585	NM_016441.3(CRIM1):c.2566C>T (p.Pro856Ser)	CRIM1 (P856S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3077439	NM_016441.3(CRIM1):c.2567C>T (p.Pro856Leu)	CRIM1 (P856L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077440	NM_016441.3(CRIM1):c.2651T>C (p.Ile884Thr)	CRIM1 (I884T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622496	NM_016441.3(CRIM1):c.2729T>C (p.Ile910Thr)	CRIM1 (I910T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780827	NM_016441.3(CRIM1):c.2730C>T (p.Ile910=)	CRIM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053471	NM_016441.3(CRIM1):c.2747-8T>C	CRIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2333627	NM_016441.3(CRIM1):c.2756A>G (p.His919Arg)	CRIM1 (H919R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531696	NM_016441.3(CRIM1):c.2836C>T (p.Pro946Ser)	CRIM1 (P946S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624209	NM_016441.3(CRIM1):c.2861T>C (p.Ile954Thr)	CRIM1 (I954T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341981	NM_016441.3(CRIM1):c.2867C>T (p.Ala956Val)	CRIM1 (A956V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369060	NM_016441.3(CRIM1):c.2889G>C (p.Lys963Asn)	CRIM1 (K963N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739188	NM_016441.3(CRIM1):c.2929A>G (p.Thr977Ala)	CRIM1 (T977A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3053680	NM_016441.3(CRIM1):c.2958A>C (p.Leu986=)	CRIM1	Single nucleotide variant (synonymous variant)	CRIM1-related disorder	GLikely benign
Select item 712502	NM_016441.3(CRIM1):c.2986A>G (p.Arg996Gly)	CRIM1 (R996G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3077441	NM_016441.3(CRIM1):c.3047G>T (p.Ser1016Ile)	CRIM1 (S1016I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234457	NM_016441.3(CRIM1):c.3061A>G (p.Met1021Val)	CRIM1 (M1021V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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